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PubMed2002

Impact of including elective pregnancy terminations before 20 weeks gestation on birth defect rates.

BACKGROUND: The majority of U.S. birth defects surveillance programs do not include elective terminations before 20 weeks gestation among the pregnancy outcomes covered. To assess the impact of defects among elective terminations before 20 weeks gestation, data from a birth defects registry that does include terminations before 20 weeks gestation were analyzed. METHODS: Using information from the Texas Birth Defects Registry, the number of cases and rate of 49 conditions were analyzed in two ways: excluding defects detected among elective pregnancy terminations before 20 weeks gestation, and including defects among terminations before 20 weeks. RESULTS: By including defects detected among elective terminations before 20 weeks, the number of cases increased by five percent or greater for nine conditions: anencephaly (29%); spina bifida without anencephaly (13%); encephalocele (21%); Patau syndrome (19%); Edwards syndrome (11%); Down syndrome (6%); omphalocele (15%); gastroschisis (5%); and anophthalmia (7%). There was no impact for 27 conditions, for which there were no cases detected among elective terminations before 20 weeks. The greatest impact was observed for anencephaly; the rate of anencephaly increased from 2.76 to 3.56 per 10,000 live births when defects among elective terminations before 20 weeks were included. CONCLUSIONS: Excluding defects among elective terminations before 20 weeks results in counts and rates that are somewhat incomplete, especially for conditions that are more commonly detected and electively terminated before 20 weeks. The impact varies by condition.

Abortion, Induced↗
PubMed2004

A multi-center study for birth defect monitoring systems in Korea.

The aim of this study was to establish a multi-center birth defects monitoring system to evaluate the prevalence and the serial occurrence of birth defects in Korea. Ten medical centers participated in this program. A trained nurse collected relevant records from delivery units and pediatric clinics in participating hospitals on a monthly basis. We observed 1,537 cases of birth defects among 86,622 deliveries, which included live births and stillbirths. The prevalence of birth defects was 1.8%, and the sex distribution of the birth defect cases was 55.2% male and 41.6% female. The highest proportion of birth defects was in the cardiovascular system (17.5%), followed by birth defects involving in the genitourinary system (15.6%). Chromosomal anomalies were detected 30.0 per 10,000 births. Of these chromosomal anomalies, Down syndrome was most frequently observed. This study led to an establishment of a multi-center active monitoring system for birth defects. To better understand the serial occurrence of birth defects in Korea, it is necessary to increase the number of participating hospitals and to launch on a nation-wide multi-center study.

Child↗
PubMed1985

Culture, rehabilitation, and facial birth defects: international case studies.

Responses to birth defects are influenced by their cultural and social context. Two multicultural societies, Israel and Nigeria, are reviewed for attitudes toward birth defects. Israel is a developed society where cultural and national origin affect utilization of health services. Differences between Western Jews, Oriental Jews, and Arabs exist in their explanations of etiology and their attitudes toward rehabilitation and community participation. Nigeria is a developing nation with limited health resources. Facial birth defects are stigmatized, infanticide remains a practice, and attitudinal barriers to the development of rehabilitation resources exist. The economic, demographic, and spiritual causes of infanticide are reviewed historically. The persistence of infanticide, though illegal, is discussed relative to issues facing the response of Western medicine to seriously afflicted newborns as well as prenatal genetic diagnosis. The importance of culture as a variable in cleft lip and palate research is stressed.

Attitude to Health↗
PubMed2001

[A population-based surveillance system on birth defects and its application].

OBJECTIVE: To describe a unique surveillance system on birth defects in the People's Republic of China. METHODS: The system was instituted in 1992 as a component for the evaluation on the effectiveness of a community intervention program using periconceptional folic acid supplementation to prevent neural tube defects and currently carries out surveys on a birth cohort of approximately 150 000 infants per year. Information was collected in the form of detailed written descriptions by local health care providers and photographs of affected infants. The system allowed for detection of birth defects at the local level with later definitive classification and coding; however, information was limited to those structural anomalies which were visible on physical examination. RESULTS: This surveillance system on birth defects provides an extensive database of infants with major and minor external structural anomalies. From 1993 to 1996, more than one million births were monitored, with more than 10 000 birth defects and 30 000 photos submitted. Among them 5 000 were identified with major birth defects. Neural tube defects, oral clefts and extremity abnormalities were the first few defects with most cases. Data were used in birth defect surveillance reports and scientific papers. CONCLUSIONS: This system can be utilized for studies on etiology, descriptive epidemiology, and identification of unusual trends which is unique with multiple advantages in the People's Republic of China.

Congenital Abnormalities↗
PubMed2001

Sex differences in the prevalence of human birth defects: a population-based study.

BACKGROUND: Sex differences in the prevalence of several human birth defects have often been reported in the literature, but the extent of sex differences for most birth defects is unknown. To determine the full extent of sex differences in birth defects in a population, we examined population-based data from the Metropolitan Atlanta Congenital Defects Program (MACDP). METHODS: MACDP records were analyzed for 1968 through 1995. We determined the sex-specific prevalence of all major birth defects, using the total number of live births by sex during these years as the denominator. For each specific defect, we calculated a relative risk with regard to sex on the basis of the ratio of prevalence among males to prevalence among females. Male-female relative risks were also determined for total major birth defects and for several broad categories of defects. RESULTS: The overall prevalence of major defects at birth was 3.9% among males and 2.8% among females. All but two of the major categories of birth defects (nervous system defects and endocrine system defects) had a higher prevalence among males. Defects of the sex organs were eight and one-half times more prevalent among males and accounted for about half of the increased risk of birth defects among males relative to females. Urinary tract defects were 62% more prevalent among males, and gastrointestinal tract defects were 55% more prevalent among males. Among specific defect types, twofold or greater differences in prevalence by sex were common. CONCLUSIONS: Our data indicate that sex differences in the prevalence of specific human birth defects are common, and male infants are at greater risk for birth defects than female infants. Several mechanisms have been proposed to account for these differences.

Congenital Abnormalities↗
PubMedDate not supplied

Validation study of the Victorian Birth Defects Register.

OBJECTIVE: To determine whether there has been an improvement in ascertainment of birth defects cases ('case validity') by the Victorian Birth Defects Register (BDR) since an earlier study (conducted in 1993), to ascertain the accuracy of registered data ('item validity') and to investigate another possible source of notification. METHODS: The medical records were reviewed of 500 children born after 1 January 1993 who were consecutively admitted after 1 January 1999 to two paediatric teaching hospitals in Victoria. In addition, records of 200 children referred to a clinical genetics service were reviewed for children born after 1 January 1993 and who were seen in two periods: 2 months after 1 January 2001 and 2 months after 1 January 2002. The records from the hospitals and clinical genetics service were reviewed separately to determine whether children recorded as having a birth defect had previously been notified to the BDR. RESULTS: Twenty percent of the hospital records related to a child with a birth defect, as did 70% of the clinical genetics service records. Overall case validity for birth defect cases from the hospitals was 88%. There was 100% ascertainment for three of five categories. Sixty per cent of birth defects cases from the clinical genetics service had been notified to the BDR. When all diagnoses in matched cases were considered, item validity was 54%, however, if only primary diagnoses were included then 92% of cases had the same diagnosis. CONCLUSIONS: Overall case validity from the two paediatric teaching hospitals has significantly improved since our previous study. The addition of an extra data source from a clinical genetics service would identify new cases, particularly genetic disorders and developmental delay, as well as adding new diagnoses to existing ones. This study has highlighted the need to improve item validity, perhaps through routine education for all coders and notifiers on the inclusion and exclusion of specific associated conditions when notifying major birth defects.

Age Factors↗
PubMed2007

Association of paternal age with prevalence of selected birth defects.

BACKGROUND: Unlike maternal age, the effect of paternal age on birth defect prevalence has not been well examined. We used cases from the Texas birth defect registry, born during 1996-2002, to evaluate the association of paternal age with the prevalence of selected structural birth defects. METHODS: Poisson regression was used to calculate prevalence ratios (PRs) and 95% confidence intervals (CIs) associated with paternal age for each birth defect, adjusting for maternal age, race/ethnicity, and parity. RESULTS: Relative to fathers ages 25-29 years, fathers 20-24 years of age were more likely to have offspring with gastroschisis (PR 1.47, 95% CI: 1.12-1.94), and fathers 40+ years old were less likely to have offspring with trisomy 13 (PR 0.40, 95% CI: 0.16-0.96). No association was seen between paternal age and prevalence of anencephaly and encephalocele. A selection bias was observed for the other birth defects in which cases of younger fathers were more often excluded from study. CONCLUSIONS: In studies of birth defect risk and paternal age, the source of information may affect the validity of findings.

Adult↗
PubMed2001

Effective coding in birth defects surveillance.

Effective coding is critical to data collected by birth defects surveillance programs because subsequent use of the data depends on storage and retrieval of cases using codes. Hence, careful consideration needs to be given to the coding process. The primary goal of coding is to accurately, completely, and concisely represent infants with birth defects. Coding procedures need to accommodate the objectives of the surveillance program; for example, programs that focus on research may require different coding procedures from those that focus on linking infants to services. Several challenges exist in coding birth defects, including the need to distinguish infants with multiple defects and syndromes from those with isolated defects, and the need for strategies to code suspected defects for which confirmation is not available. Selection of a coding system by a birth defects surveillance program is central to the utility of the data collected. Most programs use a modification of the International Statistical Classification of Diseases and Related Health Problems-based (ICD) systems. This paper addresses ICD-based systems and the modifications used by many birth defects surveillance programs and presents examples of the problems in interpreting birth defects data because of inappropriate coding.

Congenital Abnormalities↗
PubMed2006

An epidemiologic study of orofacial clefts with other birth defects in Victoria, Australia.

OBJECTIVE: To describe the epidemiological characteristics of oral clefts occurring with other birth defects in Victoria, Australia. METHODS: Information on infants and fetuses reported to the Victorian Birth Defects Register from 1983 to 2000 was collected. Birth defects were classified as Pierre Robin Sequence, chromosomal anomaly, nonchromosomal syndrome, single-system defect, or multiple-system defect. Pregnancy outcome and associations with selected infant and maternal features was examined. RESULTS: One third of the 2022 oral clefts recorded had other birth defects. There were more overall cleft cases involving multiple systems and chromosomal anomalies than any other birth defect group. The prevalence ratio of cleft lip with or without cleft palate (CL/P) was highest among multiple-system defects and chromosomal anomalies. Perinatal mortality was high, with termination of pregnancy highest in CL/P and chromosomal anomalies and multiple-system defects. There was a nonsignificant excess of clefts among multiple births. Women >or=40 years old had a tendency toward having a child with a cleft palate and another birth defect. There was an increased likelihood that women born in the U.K. would have a baby with CL/P and another birth defect. CONCLUSIONS: This is among the first reports in Victoria, Australia, describing oral clefts and other birth defects and associations between infant and maternal factors. Although some findings confirmed other population-based studies, some continued to be at variance. Nonetheless, the data derived support examination of babies diagnosed with clefts for associated comorbidities.

Abnormalities, Multiple↗
PubMed2007

Risk of selected birth defects with prenatal illicit drug use, Hawaii, 1986-2002.

The literature on the association between prenatal illicit drug use and birth defects is inconsistent. The objective of this study was to determine the risk of a variety of birth defects with prenatal illicit drug use. Data were derived from an active, population-based adverse pregnancy outcome registry. Cases were all infants and fetuses with any of 54 selected birth defects delivered during 1986-2002. The prenatal methamphetamine, cocaine, or marijuana use rates were calculated for each birth defect and compared to the prenatal use rates among all deliveries. Among all deliveries, the prenatal use rate was 0.52% for methamphetamine, 0.18% for cocaine, and 0.26% for marijuana. Methamphetamine rates were significantly higher than expected for 14 (26%) of the birth defects. Cocaine rates were significantly higher than expected for 13 (24%) of the birth defects. Marijuana rates were significantly higher than expected for 21 (39%) of the birth defects. Increased risk for the three drugs occurred predominantly among birth defects associated with the central nervous system, cardiovascular system, oral clefts, and limbs. There was also increased risk of marijuana use among a variety of birth defects associated with the gastrointestinal system. Prenatal uses of methamphetamine, cocaine, and marijuana are all associated with increased risk of a variety of birth defects. The affected birth defects are primarily associated with particular organ systems.

Adult↗
PubMed2006

Associations of birth defects with adult intellectual performance, disability and mortality: population-based cohort study.

Infants born with birth defects have poorer outcomes in terms of mortality and disability, but the long-term intellectual outcome in children with birth defects is generally unknown. We assessed the long-term associations of various birth defects with mortality and disability, and evaluated whether high mortality and disability were reflected in impaired intellectual performance at age 18. In this nationwide cohort study, records of 9,186 males with and 384,384 without birth defects, registered in the Medical Birth Registry of Norway (1967-1979) were linked to the National Conscript Service (1984-1999). Mortality and disability before military draft, and intelligence test score at conscription were the main outcome measures. Males with birth defects had a relative risk for disability of 6.0 compared with males without defects. Disability was low within categories of birth defects associated with low mortality, and high within defect categories associated with high mortality. The relative risk for not being drafted was highest if maternal educational level was low. Heart defects and cleft palate were the only subgroups in which intellectual performance was lower after adjustment for maternal education, maternal age, marital status and birth order. In particular, intellectual performance was not impaired among those with multiple compared with single defects. We conclude that for the majority of birth defect categories in the present birth cohort, our hypothesis that intellectual performance would be impaired was not confirmed. Thus, there seems to be little reason to fear an adverse intellectual outcome in non-disabled surviving infants with birth defects.

Cohort Studies↗
PubMed2001

Risk for birth defects among premature infants: a population-based study.

OBJECTIVE: To investigate the relationship between prematurity and birth defects. STUDY DESIGN: In a population-based cohort study, infants with birth defects were ascertained through the Metropolitan Atlanta Congenital Defects Program, a surveillance system with active methods of ascertainment. Gestational age data were obtained from birth certificates of liveborn, singleton infants with and without birth defects born in the 5-county metropolitan Atlanta area. RESULTS: Among 264,392 infants with known gestational ages born between 1989 and 1995, 7738 were identified as having birth defects (2.93%). Premature infants (<37 weeks' gestation) were more than two times as likely to have birth defects than term infants (37-41 weeks) (risk ratio = 2.43; 95% CI 2.30-2.56). This relationship was evident for several categories of birth defects. The rate of birth defects varied by gestational age categories, with the highest risk in the 29- to 32-week gestational age category (risk ratio = 3.37). CONCLUSIONS: The risk for birth defects is increased in premature infants. Awareness of this relationship is important for clinicians caring for premature infants. The morbidity and mortality associated with a particular defect may be significantly altered by the presence of prematurity. Further study of this association may provide insight into the etiology of these relatively common problems.

Cohort Studies↗
PubMed2006

[Evaluation on birth defects surveillance system in four counties of Shanxi province, China].

OBJECTIVE: To evaluate the reliability of the birth defects surveillance system in four counties with high prevalence of birth defects (Pingding, Xiyang, Taigu and Zezhou counties) in Shanxi province, China. METHODS: One township was selected from each county as study site. The health workers chosen from township or village level were trained to visit families on the outcomes of each pregnancy who gave birth during year 2003 in the study site. The number of births and cases collected in the study were compared with that from the surveillance system. The number of births reported by surveillance system in four counties was also compared with the data from the local government. The criteria of evaluation were: 1) number of the missing report of births should < or = 5%, 2) the number of missing report on major external birth defects cases should < or = 10%. Researchers from the Peking University were responsible for examining the quality of surveillance in some terminal units of surveillance system. RESULTS: The numbers of births reported in the study and from the surveillance system for four-township were 1043 and 997, respectively. 46 births were missing and the rate of misreporting for births was 4.4%. The numbers of birth defects cases reported in the study and from the surveillance system were 30 and 29, respectively. 1 case of birth defect as missed, and rate of misreporting for birth defects cases was 3.3%. The total number of births reported from surveillance was similar to that in the study in four counties, with a difference of 1.2%. Birth registry data was rather readable and special health workers responsible for surveillance work were present in all the terminal units of the surveillance system. CONCLUSION: The misreporting of births and cases existed in the birth defects surveillance system of the four counties in Shanxi province, but were lower than the allowable criteria. The surveillance units had better registration, reporting and administration of births and birth defect cases. Hence, the quality of the data from the surveillance system in these four counties was reliable.

Birth Certificates↗
PubMed2001

Inclusion of early fetal deaths in a birth defects surveillance system.

This investigation evaluated the impact of collecting data on early fetal deaths (less than 20 weeks' gestation) on a birth defects surveillance system. Data were obtained from the Hawaii Birth Defects Program (HBDP), a statewide registry for Hawaii with active case ascertainment methodology. In 1986 through 1997, 257 early fetal deaths with birth defects were identified, representing 2.2% of the total birth defects cases. Two hundred sixteen (84.1%) of the early fetal deaths had chromosomal defects (mainly trisomies, polyploidies, and Turner syndrome) and 59 (23.0%) had structural defects. Most (65.4%) of the early fetal deaths with chromosomal defects occurred at 8-12 weeks' gestation, and 62.3% of the early fetal deaths with structural defects occurred at 16-19 weeks' gestation. For half of the 26 specific birth defects examined, early fetal deaths accounted for at least 4% of all cases. The proportion of total birth defects cases accounted for by early fetal deaths increased over the 12-year period of the study (p = 0.003). Most of this secular trend appeared to result from an increase over time in early fetal deaths where a birth defect was prenatally detected (p = 0.004). Although ascertainment of early fetal deaths is not believed to be complete, their inclusion in a birth defects registry may be beneficial because of confusion about the pregnancy outcome and/or gestational age reported in the medical record, their importance in cluster investigations, and their contribution to birth defects prevention strategies.

Chromosome Aberrations↗
PubMedDate not supplied

The effect of using "race of child" instead of "race of mother" on the black-white gap in infant mortality due to birth defects.

OBJECTIVE: For at least 20 years, birth defects have been the leading cause of infant mortality in the United States. Some studies have reported higher rates for black infants than white infants of mortality due to birth defects, while other studies have reported no black-white differences. The authors analyzed the effect on these rates of a change in the way the National Center for Health Statistics (NCHS) tabulates "race" for newborns. METHODS: The authors calculated infant mortality rates due to birth defects for 1980-1993 using two standard methods of assigning newborns to "racial" categories: a "race of child" algorithm and the "race of mother" approach currently used by NCHS. RESULTS: From 1980 through 1993, birth defect-specific infant mortality rates (BD-IMRs) were significantly higher for black infants than white infants 12 of the 14 years by "race of mother" and only 5 of 14 years by "race of child." Calculation of BD-IMRs by "race of mother" reduced the rate for white infants and increased the rate for black infants in each of the 14 years. The choice of method for assigning newborns to "racial" categories had a progressively greater effect over time on the black-white gap in BD-IMRs. CONCLUSIONS: Calculations of trends in "race"-specific BD-IMRs by may vary substantially by whether "race of mother" or "race of child" is used. Identifying the method of tabulation is imperative for appropriate comparisons and interpretations.

Adult↗
PubMed2003

Registry to referral: using birth defects registries to refer infants and toddlers for early intervention services.

BACKGROUND: Although many birth defect surveillance systems were developed for the primary purpose of monitoring trends and conducting epidemiologic studies, a number of programs have recognized the potential of birth defects monitoring systems for identifying and referring children who may be eligible for services. Because almost all surveillance programs maintain a registry of all children who have been diagnosed with birth defects in a particular state or other defined geographic region, registries can play an important role in identifying eligible children and providing timely referral to specialized services. METHODS: We sent electronically an 18-question survey to the Centers for Disease Control and Prevention's list of State Birth Defects Surveillance Contacts in all 50 states, the District of Columbia, and Puerto Rico. The survey queried states as to whether they had or were developing a birth defect surveillance program, the extent to which they were currently using or were considering using their program as a means of identifying and referring children for services, and if so, the manner in which referrals were made. RESULTS: We received completed surveys from all 50 states, Washington, DC, and Puerto Rico. Thirty-two of the fifty-two respondents stated that their state or entity has an operational birth defect surveillance program. Of these, 13 have implemented an identification and referral system within the surveillance program. All 16 states that were planning a surveillance program are also are planning or beginning to implement a program that would include an identification and referral system. Respondents cited lack of resources and confidentiality concerns as being the major barriers to implementing a referral system for their registry. CONCLUSIONS: For many registries, using their surveillance data for program development purposes represents a new undertaking. This trend reflects increasing recognition of the role that state-based birth defect surveillance systems can play in supporting child-find efforts for children with special needs. In the long run, this expanded focus may further enhance the public health usefulness of birth defect surveillance programs.

Child, Preschool↗
PubMed2005

[Birth defects in the Czech Republic--expected incidence in the coming years].

OBJECTIVE: The study was aimed to analyze expected incidence of birth defects as a whole and some selected types of birth defects on the basis of the mean values over the period of 1983-2002 in the Czech Republic. A possible incidence of birth defects in the Czech Republic in the coming years was evaluated. DESIGN: A statistical estimate and analysis of the expected incidence based on retrospective values of incidence of birth defects from the data of the Institute of the Care of Mother and Child (UPMD) and the Institute of Medical Information and Statistics of the Czech Republic (UZIS). METHODS: The estimate of incidence of birth defects as a whole as well as according to individual selected types with the application of exponential adjustment of time series with the time-weighted parameter for individual years of the retrospective period of time. RESULTS AND CONCLUSIONS: The statistical estimate indicates that 1,244,767 children should be born in the Czech Republic over the period of 2003-2015. In this period of time there should be 50,706-67,628 prenatally and postnatally diagnosed cases of birth defects in this republic. These our results represent an estimate of birth defects in the Czech Republic in the coming years and draw attention to the importance of registry of birth defects in the Czech Republic. The epidemiology of birth defects actually represents a multidisciplinary branch, which is primarily aimed at and providing data for the evaluation of quality of prenatal and postnatal care in the Czech Republic.

Congenital Abnormalities↗
PubMed2001

Increased risk for developmental disabilities in children who have major birth defects: a population-based study.

OBJECTIVE: We sought to quantify the strength of associations between each of four specific developmental disabilities (DDs) and specific types of major birth defects. METHODS: We linked data from 2 independent surveillance systems, the Metropolitan Atlanta Congenital Defects Program and the Metropolitan Atlanta Developmental Disabilities Surveillance Program. Children with major birth defects (n = 9142; born 1981-1991 in metro Atlanta) and 3- to 10-year-old children who were born between 1981 and 1991 in metro Atlanta and identified between 1991 and 1994 as having mental retardation, cerebral palsy, hearing impairment, or vision impairment (n = 3685) were studied. Prevalence ratio (PR), which is the prevalence of a DD in children with 1 or more major birth defects divided by the prevalence of the same DD in children without major birth defects, was measured. RESULTS: Among the 9142 children who were born with a major birth defect, 657 (7.2%) had a serious DD compared with 0.9% in children with no major birth defect, yielding a PR of 8.3 (95% confidence interval: 7.6-9.0). In general, the more severe the DD, the higher was the PR. Birth defects that originated in the nervous system and chromosomal defects resulted in the highest PRs for a subsequent DD. For all other categories of birth defects, PRs were lowest when all major birth defects present were confined to a single category (ie, isolated defects). PRs for any DD increased monotonically with the number of coded birth defects per child or the number of different birth defect categories per child, regardless of the severity of the defect or whether defects of the nervous system, chromosomal defects, or "other syndromes" were counted. CONCLUSIONS: These data highlight the possible early prenatal origins of some DDs and suggest that both the number of coded birth defects present and the number of anatomic systems involved are strongly related to functional outcomes.

Abnormalities, Multiple↗